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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA413716456
Gene: PGK1
HGNC
NCBI
Linked Data
gnomAD v4:
X-78123244-T-C
MyVariant Identifiers:
chrX:g.77378741T>C (hg19)
chrX:g.78123244T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.78123244T>C , CM000685.2:g.78123244T>C
GRCh38
NC_000023.10:g.77378741T>C , CM000685.1:g.77378741T>C
GRCh37
NC_000023.9:g.77265397T>C
NCBI36
NG_008862.1:g.24076T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000373316.5:c.806T>C
MANE Select
ENSP00000362413.4:p.Leu269Pro
ENST00000644362.1:c.722T>C
ENSP00000496140.1:p.Leu241Pro
ENST00000373316.4:c.806T>C
ENSP00000362413.4:p.Leu269Pro
ENST00000474281.1:n.213T>C
NM_000291.3:c.806T>C
NP_000282.1:p.Leu269Pro
NM_000291.4:c.806T>C
MANE Select
NP_000282.1:p.Leu269Pro
Search 100 bp 5'
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